Varaico: Literature-Extracted Genetic Variants

ABCC11

239 papers

RefSeq Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC gen...

Pfam Domains

ABC_membraneaa 163–431UCSCABC transporter transmembrane region

ABC_tranaa 527–662UCSCABC transporter

ABC_membraneaa 806–1092UCSCABC transporter transmembrane region

ABC_tranaa 1158–1306UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily C member 11

HGNC Alias Symbol

MRP8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001370497.1

p.I185M

c.555A>G

Surrounding Variants

1 paper

NM_001370497.1

p.K187N

c.561G>T

1 paper

NM_001370497.1

p.K187N

c.561G>C

1 paper

NM_001370497.1

p.E190D

c.570A>T

1 paper

NM_001370497.1

p.E193V

c.578A>T

1 paper

NM_001370497.1

p.L209L

c.627T>G

2 papers

NM_001370497.1

p.K216M

c.647A>T

1 paper

NM_001370497.1

p.Q228Q

c.684A>G

2 papers

NM_001370497.1

p.R229L

c.686G>T

1 paper

NM_001370497.1

p.I232fs

c.694_695fs

1 paper

NM_001370497.1

p.G258A

c.773G>C

1 paper

NM_001370497.1

p.G180A

c.539G>C

1 paper

NM_001370497.1

p.G180delins

c.538_539delinsAT